Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	56899
Gene name	Ankyrin repeat and sterile alpha motif domain containing 1B
Gene symbol	ANKS1B
Synonyms (NCBI Gene)	AIDAAIDA-1ANKS2EB-1EB1cajalin-2
Chromosome	12
Chromosome location	12q23.1
Summary	This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer`s dise

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022633	hsa-miR-124-3p	Microarray	18668037
MIRT785366	hsa-miR-147	CLIP-seq
MIRT785367	hsa-miR-186	CLIP-seq
MIRT785368	hsa-miR-2113	CLIP-seq
MIRT785369	hsa-miR-218	CLIP-seq
MIRT785370	hsa-miR-2355-5p	CLIP-seq
MIRT785371	hsa-miR-3133	CLIP-seq
MIRT785372	hsa-miR-3140-3p	CLIP-seq
MIRT785373	hsa-miR-3646	CLIP-seq
MIRT785374	hsa-miR-3679-3p	CLIP-seq
MIRT785375	hsa-miR-4446-5p	CLIP-seq
MIRT785376	hsa-miR-4678	CLIP-seq
MIRT785377	hsa-miR-4795-3p	CLIP-seq
MIRT785378	hsa-miR-548m	CLIP-seq
MIRT785379	hsa-miR-599	CLIP-seq
MIRT785380	hsa-miR-636	CLIP-seq
MIRT785381	hsa-miR-3189-3p	CLIP-seq
MIRT785382	hsa-miR-3689a-3p	CLIP-seq
MIRT785383	hsa-miR-3689c	CLIP-seq
MIRT785384	hsa-miR-3975	CLIP-seq
MIRT785385	hsa-miR-4267	CLIP-seq
MIRT785386	hsa-miR-4448	CLIP-seq
MIRT785387	hsa-miR-4728-5p	CLIP-seq
MIRT785388	hsa-miR-550a	CLIP-seq
MIRT1931645	hsa-miR-3662	CLIP-seq
MIRT2475096	hsa-miR-10a	CLIP-seq
MIRT2475097	hsa-miR-10b	CLIP-seq
MIRT2475098	hsa-miR-339-5p	CLIP-seq
MIRT2475099	hsa-miR-3667-5p	CLIP-seq
MIRT2475100	hsa-miR-4421	CLIP-seq
MIRT2475101	hsa-miR-451b	CLIP-seq
MIRT2475102	hsa-miR-4696	CLIP-seq
MIRT2475103	hsa-miR-4725-5p	CLIP-seq
MIRT2475104	hsa-miR-504	CLIP-seq
MIRT2475096	hsa-miR-10a	CLIP-seq
MIRT2475097	hsa-miR-10b	CLIP-seq
MIRT2475098	hsa-miR-339-5p	CLIP-seq
MIRT2475099	hsa-miR-3667-5p	CLIP-seq
MIRT2475100	hsa-miR-4421	CLIP-seq
MIRT2475101	hsa-miR-451b	CLIP-seq
MIRT2475102	hsa-miR-4696	CLIP-seq
MIRT2475103	hsa-miR-4725-5p	CLIP-seq
MIRT2475104	hsa-miR-504	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15862129, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015030	Component	Cajal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0046875	Function	Ephrin receptor binding	IBA
GO:0046875	Function	Ephrin receptor binding	IPI	17875921
GO:0048013	Process	Ephrin receptor signaling pathway	IBA

MIM	HGNC	e!Ensembl
607815	24600	ENSG00000185046

Q7Z6G8

Protein name

Ankyrin repeat and sterile alpha motif domain-containing protein 1B (Amyloid-beta protein intracellular domain-associated protein 1) (AIDA-1) (E2A-PBX1-associated protein) (EB-1)

Protein function

Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMe

PDB

2EAM , 2KE7 , 2KIV , 2M38

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	7 → 125	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	114 → 189	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	185 → 256	Ankyrin repeats (3 copies)	Repeat
PF00536	SAM_1	808 → 874	SAM domain (Sterile alpha motif)	Domain
PF00536	SAM_1	882 → 946	SAM domain (Sterile alpha motif)	Domain
PF00640	PID	1062 → 1192	Phosphotyrosine interaction domain (PTB/PID)	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 i

Sequence

MGKDQELLEAARTGNVALVEKLLSGRKGGILGGGSGPLPLSNLLSIWRGPNVNCTDSSGY
TALHHAALNGHKDIVLKLLQYEASTNVADNKGYFPIHLAAWKGDVEIVKILIHHGPSHSR
VNEQNNENETALHCAAQYGHSEVVAVLLEELTDPTIRNSKLETPLDLAALYGRLRVVKMI
ISAHPNLMSCNTRKHTPLHLAARNGHKAVVQVLLEAGMDVSCQTEKGSALHEAALFGKVD
VVRVLLETGIDANIKDSLGRTVLDILKEHPSQKSLQIATLLQEYLEGVGRSTVLEEPVQE
DATQETHISSPVESPSQKTKSETVTGELSKLLDEIKLCQEKDYSFEDLCHTISDHYLDNL
SKISEEELGKNGSQSVRTSSTINLSPGEVEEEDDDENTCGPSGLWEALTPCNGCRNLGFP
MLAQESYPKKRNYTMEIVPSASLDTFPSENENFLCDLMDTAVTKKPCSLEIARAPSPRTD
NASEVAVTTPGTSNHRNSSTGPTPDCSPPSPDTALKNIVKVIRPQPKQRTSIVSSLDFHR
MNHNQEYFEINTSTGCTSFTASPPASPPTSSVGTTEVKNEGTNHTDDLSRQDDNDPPKEY
DPGQFAGLLHGSSPACESPENPFHLYGKREQCEKGQDEVSLANSPLPFKQSPIENNSEPL
VKKIKPKVVSRTIFHKKSNQLENHTIVGTRSTRSGSRNGDQWVMNAGGFVERACTLGRIR
SLPKALIDMHLSKSVSKSDSDLIAYPSNEKTSRVNWSESSTAEHSSKGNSERTPSFTSEW
EEIDKIMSSIDVGINNELKEMNGETTRPRCPVQTVGQWLESIGLPQYENHLMANGFDNVQ
FMGSNVMEDQDLLEIGILNSGHRQRILQAIQLLPKMRPIGHDGYHPTSVAEWLDSIELGD
YTKAFLINGYTSMDLLKKIWEVELINVLKINLIGHRKRILASLGDRLHDDPPQKPPRSIT
LREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQM
AQTGDWGEPSITLRPPNEATASTPVQYWQHHPEKLIFQSCDYKAFYLGSMLIKELRGTES
TQDACAKMRANCQKSTEQMKKVPTIILSVSYKGVKFIDATNKNIIAEHEIRNISCAAQDP
EDLSTFAYITKDLKSNHHYCHVFTAFDVNLAYEIILTLGQAFEVAYQLALQARKGGHSST
LPESFENKPSKPIPKPRVSIRKSVDLLHASHTGQEPSERHTEEALRKF

Sequence length

1248

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ANKS1B-related disorder	Conflicting classifications of pathogenicity	rs200534823	RCV003970752

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	40631452
Atherosclerosis	Associate	27533483
Carcinoma Renal Cell	Inhibit	24479813
Cerebral Infarction	Associate	27533483
Chromosome Aberrations	Associate	32030560
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	32030560
Developmental Disabilities	Associate	29179725
Disease	Associate	37337823
Down Syndrome	Associate	32030560
Genetic Diseases Inborn	Associate	32030560
Glucosephosphate Dehydrogenase Deficiency	Associate	21235737
KBG syndrome	Associate	32030560
Lung Neoplasms	Associate	22665367
Melanoma	Associate	30792348
Smoke Inhalation Injury	Associate	24479813
Uterine Cervical Neoplasms	Associate	35148692

ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)